EBK GENETICS: FROM GENES TO GENOMES
6th Edition
ISBN: 9781260041255
Author: HARTWELL
Publisher: MCGRAW HILL BOOK COMPANY
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Chapter 11, Problem 37P
A researcher sequences the whole exome of a patient suffering from Usher syndrome, a rare autosomal recessive condition that is nonetheless the leading cause for simultaneous deafness and blindness. The exome sequence does not show homozygosity for any polymorphisms different from the human RefSeq.
| a. How could the researcher examine the data already gathered to try to find the disease gene, assuming the sequence is accurate? |
| b. If the attempt described in part (a) was unsuccessful, the researcher might contemplate sequencing the patient’s whole genome. What are the potential pitfalls of this strategy? |
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Chapter 11 Solutions
EBK GENETICS: FROM GENES TO GENOMES
Ch. 11 - Choose the phrase from the right column that best...Ch. 11 - Would you characterize the pattern of inheritance...Ch. 11 - Would you be more likely to find single nucleotide...Ch. 11 - A recent estimate of the rate of base...Ch. 11 - If you examine Fig. 11.5 closely, you will note...Ch. 11 - Approximately 50 million SNPs have thus far been...Ch. 11 - Mutations at simple sequence repeat SSR loci occur...Ch. 11 - Humans and gorillas last shared a common ancestor...Ch. 11 - In 2015, an international team of scientists...Ch. 11 - Using PCR, you want to amplify an approximately 1...
Ch. 11 - Prob. 11PCh. 11 - The previous problem raises several interesting...Ch. 11 - You want to make a recombinant DNA in which a PCR...Ch. 11 - You sequence a PCR product amplified from a...Ch. 11 - Prob. 15PCh. 11 - The trinucleotide repeat region of the Huntington...Ch. 11 - Sperm samples were taken from two men just...Ch. 11 - Prob. 18PCh. 11 - a. It is possible to perform DNA fingerprinting...Ch. 11 - On July 17, 1918, Tsar Nicholas II; his wife the...Ch. 11 - The figure that follows shows DNA fingerprint...Ch. 11 - Microarrays were used to determine the genotypes...Ch. 11 - A partial sequence of the wild-type HbA allele is...Ch. 11 - a. In Fig. 11.17b, PCR is performed to amplify...Ch. 11 - The following figure shows a partial microarray...Ch. 11 - Scientists were surprised to discover recently...Ch. 11 - The microarray shown in Problem 25 analyzes...Ch. 11 - The figure that follows shows the pedigree of a...Ch. 11 - One of the difficulties faced by human geneticists...Ch. 11 - Now consider a mating between consanguineous...Ch. 11 - The pedigree shown in Fig. 11.22 was crucial to...Ch. 11 - You have identified a SNP marker that in one large...Ch. 11 - The pedigrees indicated here were obtained with...Ch. 11 - Approximately 3 of the population carries a mutant...Ch. 11 - The drug ivacaftor has recently been developed to...Ch. 11 - In the high-throughput DNA sequencing protocol...Ch. 11 - A researcher sequences the whole exome of a...Ch. 11 - As explained in the text, the cause of many...Ch. 11 - Figure 11.26 portrayed the analysis of Miller...Ch. 11 - A research paper published in the summer of 2012...Ch. 11 - Table 11.2 and Fig. 11.27 together portray the...Ch. 11 - The human RefSeq of the entire first exon of a...Ch. 11 - Mutations in the HPRT1 gene in humans result in at...Ch. 11 - Prob. 44P
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- C MasteringHealth MasteringNu × session.healthandnutrition-mastering.pearson.com/myct/itemView?assignment ProblemID=17396416&attemptNo=1&offset=prevarrow_forward10. Your instructor will give you 2 amino acids during the activity session (video 2-7. A. First color all the polar and non-polar covalent bonds in the R groups of your 2 amino acids using the same colors as in #7. Do not color the bonds in the backbone of each amino acid. B. Next, color where all the hydrogen bonds, hydrophobic interactions and ionic bonds could occur in the R group of each amino acid. Use the same colors as in #7. Do not color the bonds in the backbone of each amino acid. C. Position the two amino acids on the page below in an orientation where the two R groups could bond together. Once you are satisfied, staple or tape the amino acids in place and label the bond that you formed between the two R groups. - Polar covalent Bond - Red - Non polar Covalent boND- yellow - Ionic BonD - PINK Hydrogen Bonn - Purple Hydrophobic interaction-green O=C-N H I. H HO H =O CH2 C-C-N HICK H HO H CH2 OH H₂N C = Oarrow_forwardFind the dental formula and enter it in the following format: I3/3 C1/1 P4/4 M2/3 = 42 (this is not the correct number, just the correct format) Please be aware: the upper jaw is intact (all teeth are present). The bottom jaw/mandible is not intact. The front teeth should include 6 total rectangular teeth (3 on each side) and 2 total large triangular teeth (1 on each side).arrow_forward12. Calculate the area of a circle which has a radius of 1200 μm. Give your answer in mm² in scientific notation with the correct number of significant figures.arrow_forwardDescribe the image quality of the B.megaterium at 1000X before adding oil? What does adding oil do to the quality of the image?arrow_forwardWhich of the follwowing cells from this lab do you expect to have a nucleus and why or why not? Ceratium, Bacillus megaterium and Cheek epithelial cells?arrow_forward14. If you determine there to be debris on your ocular lens, explain what is the best way to clean it off without damaging the lens?arrow_forward11. Write a simple formula for converting mm to μm when the number of mm's is known. Use the variable X to represent the number of mm's in your formula.arrow_forward13. When a smear containing cells is dried, the cells shrink due to the loss of water. What technique could you use to visualize and measure living cells without heat-fixing them? Hint: you did this technique in part I.arrow_forward10. Write a simple formula for converting μm to mm when the number of μm's are known. Use the variable X to represent the number of um's in your formula.arrow_forward8. How many μm² is in one cm²; express the result in scientific notation. Show your calculations. 1 cm = 10 mm; 1 mm = 1000 μmarrow_forwardFind the dental formula and enter it in the following format: I3/3 C1/1 P4/4 M2/3 = 42 (this is not the correct number, just the correct format) Please be aware: the upper jaw is intact (all teeth are present). The bottom jaw/mandible is not intact. The front teeth should include 6 total rectangular teeth (3 on each side) and 2 total large triangular teeth (1 on each side).arrow_forwardarrow_back_iosSEE MORE QUESTIONSarrow_forward_ios
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